vertebral segmentation defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality related to a defect of vertebral separation during development. (Human Phenotype Ontology, HP_0003422)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003422
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Genes

82 genes associated with the vertebral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ANKRD11 ankyrin repeat domain 11
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPER BMP binding endothelial regulator
CCDC22 coiled-coil domain containing 22
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
COG1 component of oligomeric golgi complex 1
COL2A1 collagen, type II, alpha 1
DLL3 delta-like 3 (Drosophila)
EBP emopamil binding protein (sterol isomerase)
ELN elastin
FANCB Fanconi anemia, complementation group B
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HES7 hes family bHLH transcription factor 7
HGD homogentisate 1,2-dioxygenase
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RN interleukin 1 receptor antagonist
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KIAA0196 KIAA0196
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MNX1 motor neuron and pancreas homeobox 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NOG noggin
ORC1 origin recognition complex, subunit 1
POR P450 (cytochrome) oxidoreductase
PTCH1 patched 1
PTCH2 patched 2
PUF60 poly-U binding splicing factor 60KDa
RAD21 RAD21 homolog (S. pombe)
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
SMAD4 SMAD family member 4
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
TBX6 T-box 6
TMCO1 transmembrane and coiled-coil domains 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
VANGL1 VANGL planar cell polarity protein 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A